Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	28981
Gene name Gene Name - the full gene name approved by the HGNC.	Intraflagellar transport 81
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	IFT81
Synonyms (NCBI Gene) Gene synonyms aliases	CDV-1, CDV-1R, CDV1, CDV1R, DV1, SRTD19
Disease Acronyms (UniProt) Disease acronyms from UniProt database	SRTD19
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12q24.11
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene, together with IFT74, forms a tubulin-binding module of intraflagellar transport complex B. This module is involved in transport of tubulin within the cilium, and the encoded protein is required for ciliogenesis. Mutations

Show/Hide all(6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs143130309	C>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs200335504	C>T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, stop gained, non coding transcript variant, coding sequence variant
rs576969206	T>C,G	Likely-pathogenic	Coding sequence variant, intron variant, missense variant, non coding transcript variant, stop gained
rs751222088	G>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant
rs761469100	C>T	Likely-pathogenic	Missense variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs1555266475	CTT>-	Likely-pathogenic, uncertain-significance	Inframe deletion, non coding transcript variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant

Show/Hide all(49)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018311	hsa-miR-335-5p	Microarray	18185580
MIRT1061148	hsa-miR-208a	CLIP-seq
MIRT1061149	hsa-miR-208b	CLIP-seq
MIRT1061150	hsa-miR-3153	CLIP-seq
MIRT1061151	hsa-miR-3174	CLIP-seq
MIRT1061152	hsa-miR-3658	CLIP-seq
MIRT1061153	hsa-miR-3667-5p	CLIP-seq
MIRT1061154	hsa-miR-3675-3p	CLIP-seq
MIRT1061155	hsa-miR-4261	CLIP-seq
MIRT1061156	hsa-miR-4646-5p	CLIP-seq
MIRT1061157	hsa-miR-4668-5p	CLIP-seq
MIRT1061158	hsa-miR-4786-5p	CLIP-seq
MIRT1061159	hsa-miR-494	CLIP-seq
MIRT1061160	hsa-miR-499-5p	CLIP-seq
MIRT1061161	hsa-miR-661	CLIP-seq
MIRT1061162	hsa-miR-769-5p	CLIP-seq
MIRT1061163	hsa-miR-921	CLIP-seq
MIRT1061150	hsa-miR-3153	CLIP-seq
MIRT1061151	hsa-miR-3174	CLIP-seq
MIRT1061153	hsa-miR-3667-5p	CLIP-seq
MIRT1061155	hsa-miR-4261	CLIP-seq
MIRT1061156	hsa-miR-4646-5p	CLIP-seq
MIRT1061157	hsa-miR-4668-5p	CLIP-seq
MIRT1061158	hsa-miR-4786-5p	CLIP-seq
MIRT1061159	hsa-miR-494	CLIP-seq
MIRT1061161	hsa-miR-661	CLIP-seq
MIRT1061162	hsa-miR-769-5p	CLIP-seq
MIRT1061163	hsa-miR-921	CLIP-seq
MIRT2550041	hsa-miR-141	CLIP-seq
MIRT2550042	hsa-miR-200a	CLIP-seq
MIRT2550043	hsa-miR-4433	CLIP-seq
MIRT2550044	hsa-miR-4459	CLIP-seq
MIRT2550045	hsa-miR-4768-3p	CLIP-seq
MIRT2550046	hsa-miR-500a	CLIP-seq
MIRT2550041	hsa-miR-141	CLIP-seq
MIRT2550042	hsa-miR-200a	CLIP-seq
MIRT1061150	hsa-miR-3153	CLIP-seq
MIRT1061151	hsa-miR-3174	CLIP-seq
MIRT1061153	hsa-miR-3667-5p	CLIP-seq
MIRT1061155	hsa-miR-4261	CLIP-seq
MIRT2550043	hsa-miR-4433	CLIP-seq
MIRT2550044	hsa-miR-4459	CLIP-seq
MIRT1061156	hsa-miR-4646-5p	CLIP-seq
MIRT1061157	hsa-miR-4668-5p	CLIP-seq
MIRT2550045	hsa-miR-4768-3p	CLIP-seq
MIRT1061159	hsa-miR-494	CLIP-seq
MIRT2550046	hsa-miR-500a	CLIP-seq
MIRT1061161	hsa-miR-661	CLIP-seq
MIRT1061163	hsa-miR-921	CLIP-seq

Show/Hide all(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	28428259, 28625565
GO:0005813	Component	Centrosome	IBA	21873635
GO:0005929	Component	Cilium	IBA	21873635
GO:0005929	Component	Cilium	TAS
GO:0007283	Process	Spermatogenesis	ISS
GO:0008589	Process	Regulation of smoothened signaling pathway	IMP	27666822
GO:0015631	Function	Tubulin binding	IBA	21873635
GO:0015631	Function	Tubulin binding	IDA	23990561
GO:0030992	Component	Intraciliary transport particle B	IBA	21873635
GO:0030992	Component	Intraciliary transport particle B	ISS
GO:0031514	Component	Motile cilium	ISS
GO:0035735	Process	Intraciliary transport involved in cilium assembly	IMP	23990561
GO:0035735	Process	Intraciliary transport involved in cilium assembly	TAS
GO:0036064	Component	Ciliary basal body	IDA	23990561
GO:0042073	Process	Intraciliary transport	IBA	21873635
GO:0060271	Process	Cilium assembly	IMP	23990561, 27666822
GO:0097542	Component	Ciliary tip	TAS

MIM	HGNC	e!Ensembl
605489	14313	ENSG00000122970

Protein

UniProt ID

Q8WYA0

Protein name

Intraflagellar transport protein 81 homolog (Carnitine deficiency-associated protein expressed in ventricle 1) (CDV-1)

Protein function

Component of the intraflagellar transport (IFT) complex B: together with IFT74, forms a tubulin-binding module that specifically mediates transport of tubulin within the cilium. Binds tubulin via its CH (calponin-homology)-like region (PubMed:23

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF18383	IFT81_CH	3 → 126	Intraflagellar transport 81 calponin homology domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in testis, moderately in ovary, heart, liver, skeletal muscle, kidney and pancreas, low in prostate, brain, placenta and lung and not detected in spleen, thymus, small intestine and colon. Isoform CDV-1R is abundantly

Sequence

MSDQIKFIMDSLNKEPFRKNYNLITFDSLEPMQLLQVLSDVLAEIDPKQLVDIREEMPEQ
TAKRMLSLLGILKYKPSGNATDMSTFRQGLVIGSKPVIYPVLHWLLQRTNELKKRAYLAR
FLIKLEVPSEFLQDETVADTNKQYEELMEAFKTLHKEYEQLKISGFSTAEIRKDISAMEE
EKDQLIKRVEHLKKRVETAQNHQWMLKIARQLRVEKEREEYLAQQKQEQKNQLFHAVQRL
QRVQNQLKSMRQAAADAKPESLMKRLEEEIKFNLYMVTEKFPKELENKKKELHFLQKVVS
EPAMGHSDLLELESKINEINTEINQLIEKKMMRNEPIEGKLSLYRQQASIISRKKEAKAE
ELQEAKEKLASLEREASVKRNQTREFDGTEVLKGDEFKRYVNKLRSKSTVFKKKHQIIAE
LKAEFGLLQRTEELLKQRHENIQQQLQTMEEKKGISGYSYTQEELERVSALKSEVDEMKG
RTLDDMSEMVKKLYSLVSEKKSALASVIKELRQLRQKYQELTQECDEKKSQYDSCAAGLE
SNRSKLEQEVRRLREECLQEESRYHYTNCMIKNLEVQLRRATDEMKAYISSDQQEKRKAI
REQYTKNTAEQENLGKKLREKQKVIRESHGPNMKQAKMWRDLEQLMECKKQCFLKQQSQT
SIGQVIQEGGEDRLIL

Sequence length

676

Interactions

View interactions

	Reactome
			Intraflagellar transport

Show/Hide Causal Diseases (8)

Disease term	Disease name	dbSNP ID	References
Causal
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852 View all (22 more)
Jeune thoracic dystrophy	Jeune thoracic dystrophy	rs137853025, rs137853028, rs137853030, rs137853031, rs137853032, rs431905500, rs201188361, rs587776909, rs397514637, rs431905507, rs199952377, rs431905521, rs587777352, rs750396637, rs755338872 View all (122 more)
Macrocephaly	Relative macrocephaly	rs786204854, rs764333096, rs1557739557
Polydactyly	POLYDACTYLY, POSTAXIAL	rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474 View all (3 more)
Short rib-polydactyly syndrome	SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY	rs387907085, rs431905505, rs886037869, rs886037870, rs886044119, rs765513105, rs769724508, rs1555369050, rs1553324519, rs200335504, rs751222088, rs576969206, rs1037828930, rs1360128571, rs547679833 View all (4 more)	26275418, 30080953, 27666822
Short-rib thoracic dysplasia without polydactyly	SHORT-RIB THORACIC DYSPLASIA 19 WITHOUT POLYDACTYLY	rs200335504, rs751222088
Syndactyly	Syndactyly	rs878854345, rs104893635, rs28931600, rs587777050, rs587777051, rs606231304
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Show/Hide Unknown Diseases (8)

Disease term	Disease name	Source
Unknown
Ambiguous genitalia	Ambiguous Genitalia	ClinVar
Pulmonary hypoplasia	Congenital hypoplasia of lung	ClinVar
Short Rib-Polydactyly Syndrome	short-rib thoracic dysplasia 19 with or without polydactyly	GenCC
Bipolar Disorder	Bipolar Disorder	GWAS
Myocardial Infarction	Myocardial Infarction	GWAS
Crohn Disease	Crohn Disease	GWAS
Inflammatory Bowel Disease	Inflammatory Bowel Disease	GWAS
Atrial Fibrillation	Atrial Fibrillation	GWAS

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text Mining
Brain Diseases	Associate	26275418
Cerebellar Diseases	Associate	26275418
Ceroid Lipofuscinosis Neuronal 1	Associate	26275418
Ciliopathies	Associate	26275418
Growth Disorders	Associate	30809043
Nephronophthisis familial juvenile	Associate	26275418
Polydactyly	Associate	26275418
Retinal Dystrophies	Associate	26275418

IFT81 (intraflagellar transport 81)